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Sterol biosynthesis disorder

MONDO:0019240

An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.

Also known as: inborn error of sterol biosynthetic process, inborn sterol biosynthetic process disorder, rare inborn error of sterol biosynthetic process

45 clinical trials for this condition and its sub-types, 0 tagged with Sterol biosynthesis disorder itself.

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Where it sits in the disease tree

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Part of

↑ Developmental anomaly of metabolic origin (383) ↑ Sterol metabolism disorder (60)

Sub-types of Sterol biosynthesis disorder

CHILD syndrome 37 trials
Cholesterol biosynthetic process disease 2 trials · 6 incl. sub-types
3 sub-types
- Smith-Lemli-Opitz syndrome 6 trials
- Lathosterolosis 3 trials
- Desmosterolosis 2 trials
Mevalonate kinase deficiency 3 trials · 4 incl. sub-types
2 sub-types
- Hyperimmunoglobulinemia D with periodic fever 2 trials
- Mevalonic aciduria 0 trials
Greenberg dysplasia 2 trials
X-linked chondrodysplasia punctata 1 trial
2 sub-types
- X-linked chondrodysplasia punctata 2 1 trial
- X-linked chondrodysplasia punctata 1 0 trials
MEND syndrome 0 trials
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome 0 trials

Including sub-types (45) Tagged with Sterol biosynthesis disorder (0)

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